Medical Genetics at a Glance is a concise, well-illustrated and accessible genetics textbook. It follows the now familiar, easy-to-use, double page spread format of the At a Glance series. Each double page presents clear, memorable diagrams that illustrate essential information with accompanying text that covers key topics and issues in more detail.

Structured into three distinct sections, Medical Genetics at a Glance takes the student through developmental biology, medical genetics and the clinical application of genetics. The first section focuses on basic biological concepts such as cell and chromosome structure, molecular biology and the cell cycle, as well as human embryonic development and sexual maturation. The second section applies these principles to medicine through the essential 'laws' of inheritance, the chromosome anomalies, multifactorial inheritance, normal polymorphism and gene frequency, then moving on to gene mapping, mutagenesis, cancer and immunogenetics. The final section addresses the clinical application of the above principles in pedigree drawing and molecular diagnostic procedures based on the human gene map, PCR and Southern techniques, risk assessment, genetic counselling, gene therapy and much more.

 

Medical Genetics at a Glance is an ideal resource that fits the budget and reading time of medical students and those seeking a quick, thorough introduction to this fast moving field. It can be used as primary or supplementary reading in a lecture-based course and is perfect for exam preparation.

Part 1 Cellular, molecular and developmental biology.

1 Introduction and basic biology.

2 The cell.

3 The chromosomes.

4 DNA structure.

5 DNA replication.

6 RNA structure.

7 Production of messenger RNA.

8 Protein synthesis.

9 The cell cycle.

10 Gametogenesis.

11 Embryology.

12 Body patterning.

13 Sexual differentiation.

Part 2 Medical genetics.

14 The place of genetics in medicine.

15 Mendel’s laws.

16 Autosomal dominant inheritance, principles.

17 Autosomal dominant inheritance, clinical examples.

18 Autosomal recessive inheritance, principles.

19 Autosomal recessive inheritance, clinical examples.

20 Aspects of dominance.

21 Genomic imprinting and dynamic mutation.

22 X-linked inheritance.

23 Sex-related disorders other than X-linked.

24 Autosomal aneuploidies.

25 Sex chromosome aneuploidies.

26 Chromosome structural abnormalities.

27 Chromosome structural abnormalities, clinical examples.

28 Congenital abnormalities, pre-embryonic, embryonic and of intrinsic causation.

29 Congenital abnormalities arising at the fetal stage.

30 Principles of multifactorial disease.

31 Multifactorial disease in children.

32 The common disorders of adult life.

33 Twin studies.

34 Normal polymorphism.

35 Allele frequency.

36 Genetic linkage.

37 Gene mapping.

38 Mutagenesis and DNA repair.

39 Mutations.

40 The molecular biology of cancer.

41 Familial cancers.

42 Immunogenetics.

43 Genetic disorders of the immune system.

44 Biochemical genetics: part 1.

45 Biochemical genetics: part 2.

Part 3 Clinical applications of genetics.

46 Clinical applications of genetics: an overview.

47 Pedigree drawing.

48 Risk assessment.

49 Dysmorphology.

50 Chromosome analysis.

51 Biochemical diagnosis.

52 Reproductive genetic counselling.

53 Prenatal sampling.

54 Clinical application of linkage.

55 DNA sequencing.

56 Southern blotting.

57 The polymerase chain reaction.

58 DNA profiling.

59 Management of genetic disease.

60 Avoidance and prevention of disease.

61 Ethical and social issues in clinical genetics.

Self-assessment case studies: questions.

Self-assessment case studies: answers.

Glossary.

Appendix: information sources and resources.

Index